Article
WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.
Human mutation - 1 Dec 2016
Pinard Amélie, Salgado David, Desvignes Jean-Pierre, Rai Ghadi, Hanna Nadine, Arnaud Pauline, Guien Céline, Martinez Maria, Faivre Laurence, Jondeau Guillaume, Boileau Catherine, Zaffran Stéphane, Béroud Christophe, Collod-Béroud Gwenaëlle
Abstract excerpt
High-throughput next-generation sequencing such as whole-exome and whole-genome sequencing are being rapidly integrated into clinical practice. The use of these techniques leads to the identification of secondary variants for which decisions about the reporting or not to the patient need to be made. The American College of Medical Genetics and Genomics recently published recommendations for the reporting of these...
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